A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647229



Internal ID6687284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17643640..17646896hg38UCSC Ensembl
Innerchr22:17644140..17646396hg38UCSC Ensembl
Outerchr22:17642640..17647896hg38UCSC Ensembl
chr22:18126406..18129662hg19UCSC Ensembl
Innerchr22:18126906..18129162hg19UCSC Ensembl
Outerchr22:18125406..18130662hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383257
hg193257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16360709, essv16360645, essv16360672, essv16360648, essv16360594, essv16360687, essv16360622, essv16360626, essv16360654, essv16360617, essv16360597, essv16360710, essv16360603, essv16360595, essv16360613, essv16360638, essv16360599, essv16360615, essv16360656, essv16360636, essv16360681, essv16360652, essv16360698, essv16360693, essv16360679, essv16360641, essv16360699, essv16360669, essv16360704, essv16360666, essv16360608, essv16360616, essv16360630, essv16360647, essv16360668, essv16360655, essv16360712, essv16360625, essv16360665, essv16360637, essv16360653, essv16360606, essv16360618, essv16360671, essv16360658, essv16360629, essv16360614, essv16360700, essv16360605, essv16360670, essv16360607, essv16360685, essv16360612, essv16360677, essv16360609, essv16360627, essv16360674, essv16360635, essv16360692, essv16360650, essv16360662, essv16360682, essv16360631, essv16360628, essv16360596, essv16360643, essv16360646, essv16360708, essv16360619, essv16360632, essv16360657, essv16360705, essv16360694, essv16360686, essv16360620, essv16360644, essv16360634, essv16360676, essv16360707, essv16360663, essv16360623, essv16360673, essv16360611, essv16360661, essv16360697, essv16360690, essv16360621, essv16360667, essv16360684, essv16360598, essv16360683, essv16360695, essv16360688, essv16360601, essv16360675, essv16360711, essv16360659, essv16360689, essv16360610, essv16360678, essv16360639, essv16360649, essv16360701, essv16360604, essv16360600, essv16360664, essv16360602, essv16360680, essv16360706, essv16360633, essv16360702, essv16360651, essv16360642, essv16360660, essv16360640, essv16360703, essv16360696, essv16360624, essv16360691
SamplesHG03370, NA19137, HG02808, HG03135, HG02882, HG03354, HG03279, HG02621, NA19904, HG03382, HG03351, HG01988, HG03342, HG03304, HG01885, HG02759, NA19023, HG03295, HG02979, NA19430, HG03452, NA19334, NA19923, HG02952, NA19331, HG01956, HG01488, HG01915, HG03311, NA19338, NA19449, NA18865, NA19920, HG03048, NA18489, NA19144, NA19379, HG02497, HG03099, HG02676, NA19834, NA19378, HG02760, HG02817, NA19257, NA19108, HG01990, HG03485, HG03572, NA19467, NA19037, NA20340, HG02455, HG02053, NA18934, NA18508, HG02009, NA19917, HG03202, NA19443, NA19107, HG02703, NA19397, HG02643, NA19908, HG01396, HG01556, HG03520, NA19256, NA20282, NA19457, NA19247, HG03126, NA19129, NA19703, HG01989, HG03455, HG02461, HG03547, HG02439, HG03168, NA18504, HG02111, HG02771, NA19332, HG02307, HG03115, HG02339, NA19038, HG02819, NA18909, HG02923, HG03499, HG03045, HG03061, HG02953, HG03367, HG03078, HG02481, NA19475, NA18864, NA20317, HG03240, HG02489, HG02589, NA19327, HG02702, NA18924, HG03449, NA19130, HG02642, HG01985, NA19204, HG03515, NA19185, HG02860, NA18881, HG02855, NA19121
Known GenesBCL2L13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647229
Frequency
Sample Size2504
Observed Gain0
Observed Loss119
Observed Complex0
Frequencyn/a


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