A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10690097



Internal ID456467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139765091..139816546hg38UCSC Ensembl
Innerchr2:139765103..139816535hg38UCSC Ensembl
Outerchr2:139765080..139816558hg38UCSC Ensembl
chr2:140522660..140574115hg19UCSC Ensembl
Innerchr2:140522672..140574104hg19UCSC Ensembl
Outerchr2:140522649..140574127hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3851456
hg1951456
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592670
Supporting Variants
SamplesHG00143
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10690097
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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