A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10877649



Internal ID5935661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232528234..232531500hg38UCSC Ensembl
Innerchr2:232528241..232531493hg38UCSC Ensembl
Outerchr2:232528227..232531507hg38UCSC Ensembl
chr2:233392944..233396210hg19UCSC Ensembl
Innerchr2:233392951..233396203hg19UCSC Ensembl
Outerchr2:233392937..233396217hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383267
hg193267
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594656
Supporting Variants
SamplesNA19347
Known GenesCHRND
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10877649
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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