A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721373



Internal ID9955669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:200910870..200911426hg38UCSC Ensembl
Outerchr1:200879998..200880554hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847259, essv6793453, essv6921890, essv6929216, essv6813300, essv6950702, essv6797609, essv6941963, essv6699764, essv6749909, essv6954985, essv6968093, essv6853463
SamplesSSM086, SSM025, SSM072, SSM020, SSM071, SSM039, SSM077, SSM028, SSM087, SSM023, SSM026, SSM008, SSM018
Known GenesC1orf106
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)esv2721373
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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