A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10511162



Internal ID512978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54593745..54594828hg38UCSC Ensembl
Innerchr2:54593745..54594828hg38UCSC Ensembl
Outerchr2:54593583..54595008hg38UCSC Ensembl
chr2:54820882..54821965hg19UCSC Ensembl
Innerchr2:54820882..54821965hg19UCSC Ensembl
Outerchr2:54820720..54822145hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590845
Supporting Variants
SamplesNA19834
Known GenesSPTBN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10511162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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