A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591761



Internal ID6979089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100885744..100888122hg38UCSC Ensembl
Innerchr2:100885744..100888122hg38UCSC Ensembl
Outerchr2:100885451..100888411hg38UCSC Ensembl
chr2:101502206..101504584hg19UCSC Ensembl
Innerchr2:101502206..101504584hg19UCSC Ensembl
Outerchr2:101501913..101504873hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg382379
hg192379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597308
SamplesHG01855
Known GenesNPAS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591761
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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