A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591143



Internal ID6978471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67119558..67165367hg38UCSC Ensembl
Innerchr2:67119558..67165367hg38UCSC Ensembl
Outerchr2:67119058..67165867hg38UCSC Ensembl
chr2:67346690..67392499hg19UCSC Ensembl
Innerchr2:67346690..67392499hg19UCSC Ensembl
Outerchr2:67346190..67392999hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3845810
hg1945810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10532523
SamplesNA20296
Known GenesLOC644838
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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