A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6718775



Internal ID10132629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:185794248..185794489hg38UCSC Ensembl
Outerchr3:185512036..185512277hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726326, esv2726327
Supporting Variants
SamplesSSM044
Known GenesIGF2BP2
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)essv6718775
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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