A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764663



Internal ID10172943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330527..37331140hg38UCSC Ensembl
Outerchr4:37332149..37332762hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727416
Supporting Variants
SamplesSSM063
Known GenesKIAA1239
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)essv6764663
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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