A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2678394

Internal ID9597813
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44555505..44556590hg38UCSC Ensembl
chr1:45021177..45022262hg19UCSC Ensembl
Allele length
AssemblyAllele length
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, essv6263659, essv6554707, essv5765996, essv6188813, essv5584840, essv6188069, essv5651375, essv5538190, essv5588133, essv6030045, essv6083766, essv5592952, essv6358349, essv6243414, essv5561753, essv6597243, essv5817553, essv6453684, essv6015533, essv6482661, essv5689414, essv5445518, essv5877985, essv6580872, essv6296880, essv5643142, essv5859680, essv5995849, essv6249425, essv5556908, essv6218542, essv5669386, essv6167678, essv5815622, essv5998202, essv5944106, essv6112689, essv6017441, essv6478630, essv6337305, essv5693742, essv6267574, essv6324389, essv6350336, essv5779410, essv5790287, essv6555778, essv5755196, essv5921022, essv6077996, essv6520680, 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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2678394
Sample Size1151
Observed Gain0
Observed Loss94
Observed Complex0

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