A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594601



Internal ID6981921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230326507..230364470hg38UCSC Ensembl
Innerchr2:230326507..230364470hg38UCSC Ensembl
Outerchr2:230326007..230364970hg38UCSC Ensembl
chr2:231191222..231229185hg19UCSC Ensembl
Innerchr2:231191222..231229185hg19UCSC Ensembl
Outerchr2:231190722..231229685hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3837964
hg1937964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10873600
SamplesHG03057
Known GenesSP140L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594601
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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