A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596030



Internal ID6983348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44185301..44187568hg38UCSC Ensembl
Innerchr3:44185301..44187568hg38UCSC Ensembl
Outerchr3:44185073..44187852hg38UCSC Ensembl
chr3:44226793..44229060hg19UCSC Ensembl
Innerchr3:44226793..44229060hg19UCSC Ensembl
Outerchr3:44226565..44229344hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382268
hg192268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10993257, essv10993268, essv10993265, essv10993267, essv10993244, essv10993245, essv10993255, essv10993250, essv10993254, essv10993251, essv10993247, essv10993264, essv10993252, essv10993248, essv10993260, essv10993246, essv10993256, essv10993262, essv10993249, essv10993263, essv10993266, essv10993261, essv10993253, essv10993259, essv10993258
SamplesHG02628, HG03052, HG03111, NA18870, HG03999, HG03436, HG02621, NA19457, HG04238, HG00182, HG04185, HG02715, NA20858, NA20787, NA19327, HG03428, HG03451, HG03940, HG00742, HG03838, NA19380, HG03557, HG03313, HG03072, HG01747
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596030
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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