A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942263



Internal ID9704085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:156490972..156491082hg38UCSC Ensembl
Outerchr2:157347484..157347594hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721009, esv2721010
Supporting Variants
SamplesSSM023
Known GenesGPD2
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)essv6942263
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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