A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598380



Internal ID4226528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103238038..103242169hg38UCSC Ensembl
Innerchr2:103238042..103242166hg38UCSC Ensembl
Outerchr2:103238035..103242173hg38UCSC Ensembl
chr2:103854496..103858627hg19UCSC Ensembl
Innerchr2:103854500..103858624hg19UCSC Ensembl
Outerchr2:103854493..103858631hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg384132
hg194132
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591801
Supporting Variants
SamplesHG03802
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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