A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720689



Internal ID9954985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:124046448..124046991hg38UCSC Ensembl
Outerchr2:124804025..124804568hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787744
SamplesSSM009
Known GenesCNTNAP5
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)esv2720689
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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