A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10726876



Internal ID4005537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157859924..157865562hg38UCSC Ensembl
Innerchr2:157859974..157865512hg38UCSC Ensembl
Outerchr2:157859868..157865618hg38UCSC Ensembl
chr2:158716436..158722074hg19UCSC Ensembl
Innerchr2:158716486..158722024hg19UCSC Ensembl
Outerchr2:158716380..158722130hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg385639
hg195639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593065
Supporting Variants
SamplesHG03660
Known GenesACVR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10726876
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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