A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10751029



Internal ID1081472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167764992..167810263hg38UCSC Ensembl
Innerchr2:167764998..167810258hg38UCSC Ensembl
Outerchr2:167764987..167810269hg38UCSC Ensembl
chr2:168621502..168666773hg19UCSC Ensembl
Innerchr2:168621508..168666768hg19UCSC Ensembl
Outerchr2:168621497..168666779hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3845272
hg1945272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593295
Supporting Variants
SamplesHG00704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10751029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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