A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10890922



Internal ID5029074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240538549..240539235hg38UCSC Ensembl
Innerchr2:240538599..240539185hg38UCSC Ensembl
Outerchr2:240538499..240539285hg38UCSC Ensembl
chr2:241477966..241478652hg19UCSC Ensembl
Innerchr2:241478016..241478602hg19UCSC Ensembl
Outerchr2:241477916..241478702hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594803
Supporting Variants
SamplesNA18519
Known GenesANKMY1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10890922
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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