A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592347



Internal ID6979674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126897232..126897963hg38UCSC Ensembl
Innerchr2:126897282..126897913hg38UCSC Ensembl
Outerchr2:126897152..126898043hg38UCSC Ensembl
chr2:127654808..127655539hg19UCSC Ensembl
Innerchr2:127654858..127655489hg19UCSC Ensembl
Outerchr2:127654728..127655619hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10661094, essv10661095, essv10661096
SamplesNA18947, NA19395, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592347
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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