A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10694593



Internal ID2245651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142750339..142756408hg38UCSC Ensembl
Innerchr2:142750381..142756367hg38UCSC Ensembl
Outerchr2:142750298..142756450hg38UCSC Ensembl
chr2:143507908..143513977hg19UCSC Ensembl
Innerchr2:143507950..143513936hg19UCSC Ensembl
Outerchr2:143507867..143514019hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386070
hg196070
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592739
Supporting Variants
SamplesHG02013
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10694593
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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