A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6712715



Internal ID10125217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13473363..13473847hg38UCSC Ensembl
Outerchr10:13515363..13515847hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733395
Supporting Variants
SamplesSSM042
Known GenesBEND7
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)essv6712715
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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