A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10492969



Internal ID829147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47550138..47556101hg38UCSC Ensembl
Innerchr2:47550138..47556101hg38UCSC Ensembl
Outerchr2:47549920..47556325hg38UCSC Ensembl
chr2:47777277..47783240hg19UCSC Ensembl
Innerchr2:47777277..47783240hg19UCSC Ensembl
Outerchr2:47777059..47783464hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385964
hg195964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590630
Supporting Variants
SamplesHG00419
Known GenesKCNK12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10492969
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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