A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716079



Internal ID10299715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58726223..58726751hg38UCSC Ensembl
Outerchr17:56803584..56804112hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809914, essv6936948, essv6796770, essv6913330, essv6954007, essv6732861, essv6788505, essv6761460, essv6966945, essv6852306
SamplesSSM071, SSM027, SSM075, SSM021, SSM047, SSM069, SSM061, SSM086, SSM015, SSM025
Known GenesRAD51C
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2716079
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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