A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863937



Internal ID10261026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6005063..6005296hg38UCSC Ensembl
Outerchr1:6065123..6065356hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738028
Supporting Variants
SamplesSSM089
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)essv6863937
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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