A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6956213



Internal ID10064963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88601770..88602082hg38UCSC Ensembl
Outerchr4:89522921..89523233hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727952
Supporting Variants
SamplesSSM026
Known GenesHERC3
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)essv6956213
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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