A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597242



Internal ID5659380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100278059..100281326hg38UCSC Ensembl
Innerchr2:100278059..100281326hg38UCSC Ensembl
Outerchr2:100277914..100281426hg38UCSC Ensembl
chr2:100894521..100897788hg19UCSC Ensembl
Innerchr2:100894521..100897788hg19UCSC Ensembl
Outerchr2:100894376..100897888hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383268
hg193268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591751
Supporting Variants
SamplesNA19070
Known GenesLONRF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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