A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6763471



Internal ID9823059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19202719..19704221hg38UCSC Ensembl
Outerchr13:19776859..20278361hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38501503
hg19501503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747051
Supporting Variants
SamplesSSM062
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
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)essv6763471
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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