A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10641133



Internal ID642949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120485127..121067968hg38UCSC Ensembl
Innerchr2:120485277..121067818hg38UCSC Ensembl
Outerchr2:120484977..121068118hg38UCSC Ensembl
chr2:121242703..121825544hg19UCSC Ensembl
Innerchr2:121242853..121825394hg19UCSC Ensembl
Outerchr2:121242553..121825694hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38582842
hg19582842
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592180
Supporting Variants
SamplesHG03645
Known GenesGLI2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10641133
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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