A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591315



Internal ID6978643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76183277..76186944hg38UCSC Ensembl
Innerchr2:76183277..76186944hg38UCSC Ensembl
Outerchr2:76182973..76187216hg38UCSC Ensembl
chr2:76410403..76414070hg19UCSC Ensembl
Innerchr2:76410403..76414070hg19UCSC Ensembl
Outerchr2:76410099..76414342hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383668
hg193668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10545589, essv10545586, essv10545591, essv10545592, essv10545588, essv10545590, essv10545587, essv10545593
SamplesNA18998, NA18528, NA18982, HG04146, NA18948, NA18945, HG00476, HG00565
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591315
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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