A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739607



Internal ID10323243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:92673671..92676011hg38UCSC Ensembl
Outerchr10:94433428..94435768hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg382341
hg192341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736320, essv6900429, essv6952933, essv6931537, essv6866794, essv6688067, essv6965329
SamplesSSM100, SSM027, SSM089, SSM035, SSM020, SSM007, SSM025
Known Genes
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)esv2739607
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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