A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721156



Internal ID10304792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174594382..174594990hg38UCSC Ensembl
Outerchr2:175459110..175459718hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859690, essv6889374, essv6853879, essv6847694, essv6886287, essv6962232, essv6817084, essv6872037, essv6807707, essv6864478, essv6793736, essv6898943, essv6679588, essv6750919, essv6955470, essv6906544
SamplesSSM100, SSM071, SSM027, SSM075, SSM087, SSM097, SSM088, SSM057, SSM096, SSM026, SSM089, SSM014, SSM086, SSM033, SSM078, SSM091
Known GenesWIPF1
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)esv2721156
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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