A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670312



Internal ID9589731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128499519..128999613hg38UCSC Ensembl
chr7:128139573..128639667hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38500095
hg19500095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5417337, essv5722412, essv6447426, essv5936644, essv5726014, essv5555942, essv5907722, essv5731896, essv5462249, essv6049251, essv5897032, essv6171066, essv6371764, essv6394423, essv6235239, essv5946759, essv5549674, essv6598231, essv5763969, essv5459583, essv5889428, essv6294007, essv6593141, essv5557137, essv5626300, essv6009562, essv6518714, essv5916805, essv6090860, essv6017238, essv6337003, essv6507483, essv6441505, essv6497785, essv6128909, essv6079311, essv6326650, essv6596153, essv5572843, essv6363165, essv5459587, essv5448280, essv6191061, essv6504695, essv5846160, essv5633349, essv6390550, essv6406786, essv5777843, essv5456654, essv5912425, essv6027006, essv5624786, essv6199617, essv6386291, essv5549966, essv6510092, essv6084269, essv5802274, essv6346771, essv5734652, essv5508369, essv6027977, essv5863495, essv6420733, essv5519842, essv5534742, essv6414768, essv6488029, essv6254141, essv5661209, essv5516022, essv6142563, essv6531247, essv6131720, essv6043503, essv6340453, essv6198589, essv5841029, essv5594750, essv5535984, essv5924085, essv5655540, essv6071038, essv5962547
SamplesHG00671, NA10851, HG01052, NA18561, NA18599, HG01374, NA12045, NA12340, HG00566, HG01461, NA07357, HG00693, HG00663, NA19068, NA19746, HG01350, NA19005, HG01070, HG00501, HG00689, NA19723, NA18558, NA18916, NA19782, NA18949, NA18868, NA18560, NA19235, NA18617, HG00422, NA19471, HG00326, NA18973, NA19789, NA18539, HG00464, HG01353, HG00133, NA18951, HG00268, NA19056, NA12003, HG00428, NA19347, HG00653, HG01095, NA20536, NA18637, NA18948, NA20344, NA19114, NA11919, HG00690, HG00684, HG00276, HG00152, HG00126, NA19675, NA19012, NA20296, NA19003, NA18632, NA19749, NA19072, HG00734, HG01357, NA18943, NA19783, HG00662, NA18615, HG01342, NA20582, NA19472, HG00656, NA18636, HG00310, NA19770, HG00698, NA19213, HG01251, HG01377, NA19758, HG01125, NA18511, NA19676
Known GenesATP6V1F, CALU, CCDC136, FAM71F1, FAM71F2, FLNC, IRF5, KCP, LINC01000, LOC100130705, METTL2B, OPN1SW, TNPO3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670312
Frequency
Sample Size1151
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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