A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594363



Internal ID6981683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219589004..219592163hg38UCSC Ensembl
Innerchr2:219589054..219592113hg38UCSC Ensembl
Outerchr2:219588943..219592224hg38UCSC Ensembl
chr2:220453726..220456885hg19UCSC Ensembl
Innerchr2:220453776..220456835hg19UCSC Ensembl
Outerchr2:220453665..220456946hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383160
hg193160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10855413, essv10855411, essv10855412
SamplesHG01686, HG01766, HG02799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594363
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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