A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702696



Internal ID9767809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113670508..113670897hg38UCSC Ensembl
Outerchr13:114324823..114325212hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748349
Supporting Variants
SamplesSSM039
Known GenesGRK1
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)essv6702696
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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