A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662967



Internal ID9929072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7403697..7408103hg38UCSC Ensembl
Outerchr17:7403326..7408473hg38UCSC Ensembl
Innerchr17:7307016..7311422hg19UCSC Ensembl
Outerchr17:7306645..7311792hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6282177, essv5672457, essv6518859, essv6126488, essv6280747, essv6077611, essv5937431, essv5734764, essv5533830, essv6021449, essv5914909, essv5559807, essv6048315, essv5578742, essv5483657, essv6194333, essv5784060, essv5577150, essv5554881, essv5942927, essv6014524, essv5557769, essv6032239, essv6059973, essv5998318, essv5570753, essv5961278, essv5741040, essv5662662, essv5787079, essv5607106, essv6066287, essv5786816, essv5925426, essv5732426, essv6440442, essv6255743, essv5841356, essv6131941, essv5490172, essv5789000, essv5812638, essv5916587, essv5412629, essv6293989, essv5396739, essv5476525, essv6338579, essv6053566, essv6011496, essv6581116, essv5726328, essv5446428, essv6118597, essv6514124, essv6177189
SamplesHG00189, HG00361, HG00187, HG00315, HG00318, HG00181, HG00179, HG00327, HG00271, HG00272, HG00330, HG00346, HG00270, HG00334, HG00185, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00176, HG00282, HG00328, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00336, HG00285, HG00375, HG00278, HG00319, HG00339, HG00329, HG00342, HG00186, HG00343, HG00377, HG00274, HG00345, HG00180
Known GenesNLGN2, TMEM256, TMEM256-PLSCR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662967
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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