A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593822



Internal ID6981144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194046894..194123641hg38UCSC Ensembl
Innerchr2:194046901..194123635hg38UCSC Ensembl
Outerchr2:194046888..194123648hg38UCSC Ensembl
chr2:194911618..194988365hg19UCSC Ensembl
Innerchr2:194911625..194988359hg19UCSC Ensembl
Outerchr2:194911612..194988372hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3876748
hg1976748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10809715, essv10809717, essv10809718, essv10809716, essv10809714
SamplesNA19648, HG01702, HG01605, HG02265, HG01669
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593822
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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