A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10684184



Internal ID686000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136323745..136331115hg38UCSC Ensembl
Innerchr2:136323760..136331101hg38UCSC Ensembl
Outerchr2:136323731..136331130hg38UCSC Ensembl
chr2:137081315..137088685hg19UCSC Ensembl
Innerchr2:137081330..137088671hg19UCSC Ensembl
Outerchr2:137081301..137088700hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg387371
hg197371
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592594
Supporting Variants
SamplesHG01798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10684184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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