A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10537801



Internal ID5956902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70761501..70765246hg38UCSC Ensembl
Innerchr2:70761651..70765096hg38UCSC Ensembl
Outerchr2:70761351..70765396hg38UCSC Ensembl
chr2:70988633..70992378hg19UCSC Ensembl
Innerchr2:70988783..70992228hg19UCSC Ensembl
Outerchr2:70988483..70992528hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383746
hg193746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591211
Supporting Variants
SamplesNA19375
Known GenesADD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10537801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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