A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674693



Internal ID9594112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29883589..29937895hg38UCSC Ensembl
Outerchr6:29883218..29938415hg38UCSC Ensembl
Innerchr6:29851366..29905672hg19UCSC Ensembl
Outerchr6:29850995..29906192hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3855198
hg1955198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1087e199
Supporting Variantsessv5944881, essv5809950, essv6324585, essv5747927, essv5720877, essv5405190, essv5477457, essv5985762, essv5957906, essv6030029, essv6540862, essv6132663, essv6162072, essv5902161, essv5566904, essv5863038, essv6543102, essv5844141, essv6338040, essv6151851, essv5811220, essv5899440, essv6347562, essv6584994, essv6224073, essv5773961, essv6057393, essv5998862, essv5852579, essv6323253, essv5709812, essv6294853, essv6101094, essv5412353, essv6145353, essv5764837, essv5637031, essv6472048, essv5707449, essv6203608, essv5913489, essv6003340, essv5580012, essv6441278, essv6205546, essv5780399, essv5687783, essv5785778, essv6339003, essv5676095, essv6593901, essv6446055, essv5460914, essv5757893, essv5678620, essv5595732, essv6254522, essv6190585, essv6498234, essv6572139, essv5847689, essv6005975, essv5904329, essv6435623
SamplesHG01060, NA19058, NA19055, NA18947, NA19066, HG01079, HG01188, NA18999, NA18959, HG01051, NA19067, NA18988, NA18967, HG00641, NA19076, NA18944, NA18940, NA18982, NA18960, NA18942, NA19062, NA19088, NA19079, NA18949, HG01069, HG01080, HG01067, HG01176, NA18986, NA18990, HG01198, NA18985, NA18973, HG01353, HG01183, NA18951, HG00731, NA19056, NA19077, HG01095, NA19064, HG01073, NA19000, HG01101, NA19059, NA19009, NA19012, HG01190, NA18961, NA18952, NA19072, NA18950, NA18941, NA19010, NA19085, NA19078, NA18971, HG01055, NA18972, NA18984, NA19004, NA19063, NA19074, HG01061
Known GenesHCG4B, HLA-H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674693
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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