A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678394



Internal ID9597813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44555505..44556590hg38UCSC Ensembl
chr1:45021177..45022262hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41e199
Supporting Variantsessv6567021, essv6489005, essv6039467, essv6027950, essv6363213, essv5540281, essv5600552, essv5643247, essv6468152, essv5928885, essv6308982, essv5888580, essv5567169, essv6318350, essv5977014, essv6558010, essv5428513, essv6571864, essv5995472, essv5821154, essv6195965, essv5489230, essv5737763, essv6265524, essv5840762, essv6039165, essv6572271, essv5412483, essv6046354, essv5788418, essv5557514, essv6554707, essv6263659, essv5765996, essv6188813, essv5584840, essv6188069, essv5651375, essv5538190, essv5588133, essv6030045, essv6083766, essv5592952, essv6358349, essv6243414, essv5561753, essv6597243, essv5817553, essv6453684, essv6015533, essv5689414, essv6482661, essv5445518, essv5877985, essv6580872, essv6296880, essv5643142, essv5859680, essv5995849, essv6249425, essv5556908, essv6218542, essv5669386, essv6167678, essv5815622, essv5998202, essv5944106, essv6017441, essv6112689, essv6478630, essv6337305, essv5693742, essv6324389, essv6267574, essv6350336, essv5779410, essv5790287, essv6555778, essv5755196, essv5921022, essv6520680, essv6077996, essv5570674, essv6474996, essv6475062, essv6067844, essv5533087, essv6500966, essv6196482, essv6084209, essv5428262, essv6172081, essv6233046, essv5650138
SamplesNA19012, NA18621, NA19625, NA18616, NA18534, HG01052, NA19081, NA18874, HG00500, NA20510, HG00464, HG00565, NA19469, NA18550, NA19072, NA18545, NA19317, NA19334, HG00577, NA19788, NA19010, NA18541, NA19461, NA18963, NA19682, NA19084, NA19472, NA18873, NA18596, HG00543, NA19062, NA19463, NA19067, NA18624, NA19059, NA20356, NA18635, NA19057, NA19443, NA19471, NA19900, NA19722, HG00692, HG00689, NA19066, HG00178, HG00419, NA19985, NA19256, NA18637, NA18982, NA18634, NA18539, NA19055, NA19247, NA19360, NA19313, NA19377, NA19189, HG00653, NA19373, NA19716, NA19002, NA18564, NA18961, NA19347, NA19332, NA19909, HG00512, NA18543, NA18940, NA18597, HG00443, NA19391, NA19078, NA20332, NA18538, NA19719, NA18544, NA19371, HG00708, NA19916, NA19470, HG00641, NA18574, NA18853, HG01462, NA19473, NA18615, HG00476, NA19007, NA19661, NA18553, NA19439
Known GenesRNF220
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678394
Frequency
Sample Size1151
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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