A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664202



Internal ID9930307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41227364..41239070hg38UCSC Ensembl
Outerchr17:41226993..41239440hg38UCSC Ensembl
Innerchr17:39383616..39395322hg19UCSC Ensembl
Outerchr17:39383245..39395692hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3812448
hg1912448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6159930, essv6344716, essv5649806, essv5760674, essv6374056, essv5624785, essv5520944, essv6085195, essv5862893, essv6583156, essv6518196, essv6525178, essv6272159, essv5539414, essv6433655, essv5990660, essv5453977, essv6023698, essv6425996, essv5869198, essv5895068, essv6401754, essv6415360, essv6568036, essv5715114, essv5559699, essv5877157, essv6422398, essv6023394, essv5409620, essv5481332, essv6465003, essv6072046, essv5981396
SamplesNA18508, NA18507, NA18504, NA18510, NA19171, NA18489, NA19198, NA18498, NA18874, NA18868, NA19137, NA19172, NA19189, NA18520, NA18867, NA19152, NA18910, NA18499, NA18856, NA18853, NA19099, NA18523, NA18858, NA19108, NA19147, NA18517, NA19144, NA19248, NA19102, NA19116, NA19213, NA18505, NA19129, NA18511
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664202
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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