A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6813919



Internal ID9869324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85643236..85643554hg38UCSC Ensembl
Outerchr4:86564389..86564707hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727922
Supporting Variants
SamplesSSM077
Known GenesARHGAP24
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)essv6813919
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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