A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659285



Internal ID9578704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73374077..73374833hg38UCSC Ensembl
Outerchr17:73373706..73375203hg38UCSC Ensembl
Innerchr17:71370216..71370972hg19UCSC Ensembl
Outerchr17:71369845..71371342hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381498
hg191498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6289013, essv6049456, essv5751282, essv5442622, essv6036793, essv5924233, essv5603987, essv6192531, essv6559746, essv6452090, essv5596643, essv6032456, essv6322247, essv5920726, essv6343576, essv6204800, essv5458163, essv6436780, essv6573485, essv5784535, essv5978487, essv6478545, essv6386988, essv5759012, essv6281805, essv6112582, essv5746084, essv6008739, essv6253850, essv6143473, essv5431588, essv6242303
SamplesNA18502, NA19204, NA18861, NA18508, NA18507, NA18486, NA18504, NA19098, NA19171, NA18519, NA19198, NA19131, NA18916, NA19197, NA19138, NA18868, NA19137, NA19207, NA19152, NA18516, NA18871, NA18907, NA18856, NA18912, NA19160, NA18909, NA18501, NA19248, NA19223, NA19093, NA18487, NA19153
Known GenesSDK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659285
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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