A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10883522



Internal ID885338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235572401..235598173hg38UCSC Ensembl
Innerchr2:235572401..235598173hg38UCSC Ensembl
Outerchr2:235571901..235598673hg38UCSC Ensembl
chr2:236481045..236506817hg19UCSC Ensembl
Innerchr2:236481045..236506817hg19UCSC Ensembl
Outerchr2:236480545..236507317hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3825773
hg1925773
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594712
Supporting Variants
SamplesHG00182
Known GenesAGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10883522
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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