A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656659



Internal ID9922764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833003..89265365hg38UCSC Ensembl
Outerchr2:88832632..89265735hg38UCSC Ensembl
Innerchr2:89132516..89565122hg19UCSC Ensembl
Outerchr2:89132145..89565492hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38433104
hg19433348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714e199
Supporting Variantsessv6111840, essv5820099, essv6561636, essv6537755, essv6482408, essv5947668, essv5724209, essv5555065, essv5536013, essv6551450, essv6119886, essv5862846, essv6423347, essv5790748, essv6566463, essv5607386, essv6039953, essv5615677, essv5593409, essv6195891, essv6393360, essv6066291, essv5456602, essv5669376, essv5626159, essv5606413, essv5707208, essv5488648, essv5892575, essv5806579, essv5504455, essv6165267, essv5591225, essv5918696, essv5443115, essv5803185, essv5865951, essv6394330, essv6377415, essv5508753, essv5719040, essv6080219, essv5501970, essv6085455, essv5769323, essv5787449, essv5640074, essv5427545, essv6368040, essv5598994, essv5397722, essv5556862, essv5865393, essv5512131, essv6210507, essv5999420, essv5965566, essv6385681, essv5838377, essv5446230, essv6356738, essv6558551, essv5579986, essv6044370, essv5644288, essv6566384, essv5956161, essv6465404, essv5613792, essv6047874
SamplesNA18621, NA18592, NA18565, NA18561, NA18599, NA18603, NA18545, NA18596, NA18530, NA18606, NA18616, NA18526, NA18627, NA18563, NA18550, NA18597, NA18595, NA18567, NA18558, NA18547, NA18618, NA18574, NA18582, NA18611, NA18560, NA18617, NA18557, NA18539, NA18638, NA18614, NA18544, NA18605, NA18538, NA18637, NA18579, NA18572, NA18534, NA18630, NA18548, NA18566, NA18573, NA18626, NA18532, NA18553, NA18555, NA18536, NA18634, NA18593, NA18541, NA18546, NA18608, NA18632, NA18542, NA18535, NA18543, NA18559, NA18564, NA18628, NA18615, NA18610, NA18631, NA18636, NA18609, NA18552, NA18624, NA18612, NA18549, NA18622, NA18562, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656659
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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