A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664007



Internal ID9930112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75095811..75096981hg38UCSC Ensembl
Outerchr17:75095772..75097038hg38UCSC Ensembl
Innerchr17:73091906..73093076hg19UCSC Ensembl
Outerchr17:73091867..73093133hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv567e199
Supporting Variantsessv6323801, essv5923512, essv5462340, essv6065417, essv5846740, essv5442289, essv5691014, essv5485884, essv6179424, essv5682081, essv5647536, essv5916192, essv5670432, essv5852654, essv6450252, essv6008438, essv6053694, essv5945687, essv6244628, essv5719598, essv6111916, essv5413952, essv6140016, essv6306834
SamplesHG00306, HG00151, NA19359, NA19355, NA20332, NA19374, NA19396, HG01177, HG01488, HG01365, HG00243, HG01067, HG00739, HG00108, NA18933, NA19327, HG01197, HG00265, NA20341, NA19398, NA19223, HG01055, HG00112, HG01097
Known GenesSLC16A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664007
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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