A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594110



Internal ID6981430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208216023..208222029hg38UCSC Ensembl
Innerchr2:208216523..208221529hg38UCSC Ensembl
Outerchr2:208215023..208223029hg38UCSC Ensembl
chr2:209080747..209086753hg19UCSC Ensembl
Innerchr2:209081247..209086253hg19UCSC Ensembl
Outerchr2:209079747..209087753hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832980, essv10832986, essv10832973, essv10832974, essv10832984, essv10832969, essv10832970, essv10832985, essv10832975, essv10832977, essv10832971, essv10832987, essv10832982, essv10832978, essv10832976, essv10832972, essv10832981, essv10832968, essv10832983, essv10832979
SamplesHG01060, HG01521, NA19794, HG01325, HG01393, HG01164, HG00282, HG01247, HG01104, HG01612, HG01077, HG01323, HG01073, HG01075, HG00383, HG00734, HG02235, HG01085, HG00112, HG01516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594110
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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