A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747174



Internal ID9981458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26149763..26150192hg38UCSC Ensembl
Outerchr13:26723901..26724330hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977462, essv6688392, essv6691719, essv6812309, essv6755668, essv6823762, essv6709610
SamplesSSM036, SSM079, SSM041, SSM058, SSM029, SSM035, SSM076
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)esv2747174
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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