A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872377



Internal ID9921935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85696027..85696233hg38UCSC Ensembl
Outerchr4:86617180..86617386hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727923
Supporting Variants
SamplesSSM091
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)essv6872377
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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