A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10732939



Internal ID4528779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159524900..159574585hg38UCSC Ensembl
Innerchr2:159524900..159574585hg38UCSC Ensembl
Outerchr2:159524400..159575085hg38UCSC Ensembl
chr2:160381411..160431096hg19UCSC Ensembl
Innerchr2:160381411..160431096hg19UCSC Ensembl
Outerchr2:160380911..160431596hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3849686
hg1949686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593119
Supporting Variants
SamplesHG04023
Known GenesBAZ2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10732939
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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