A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10684203



Internal ID1367957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136427944..136430953hg38UCSC Ensembl
Innerchr2:136427968..136430930hg38UCSC Ensembl
Outerchr2:136427921..136430977hg38UCSC Ensembl
chr2:137185514..137188523hg19UCSC Ensembl
Innerchr2:137185538..137188500hg19UCSC Ensembl
Outerchr2:137185491..137188547hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg383010
hg193010
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592599
Supporting Variants
SamplesHG01205
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10684203
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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