A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10747405



Internal ID749221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166299120..166302260hg38UCSC Ensembl
Innerchr2:166299126..166302255hg38UCSC Ensembl
Outerchr2:166299115..166302266hg38UCSC Ensembl
chr2:167155630..167158770hg19UCSC Ensembl
Innerchr2:167155636..167158765hg19UCSC Ensembl
Outerchr2:167155625..167158776hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383141
hg193141
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593247
Supporting Variants
SamplesHG01241
Known GenesSCN9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10747405
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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