A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10809714



Internal ID1731783
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593822
Supporting Variants
SamplesHG01605
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10809714
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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