A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738917



Internal ID10322553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6025653..6026117hg38UCSC Ensembl
Outerchr1:6085713..6086177hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804391, essv6839958, essv6910024
SamplesSSM074, SSM084, SSM015
Known GenesKCNAB2
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)esv2738917
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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