A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10479635



Internal ID634878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42457710..42458529hg38UCSC Ensembl
Innerchr2:42457710..42458529hg38UCSC Ensembl
Outerchr2:42457339..42458844hg38UCSC Ensembl
chr2:42684850..42685669hg19UCSC Ensembl
Innerchr2:42684850..42685669hg19UCSC Ensembl
Outerchr2:42684479..42685984hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590503
Supporting Variants
SamplesHG00277
Known GenesKCNG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10479635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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