A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592172



Internal ID6979499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119727059..119731607hg38UCSC Ensembl
Innerchr2:119727109..119731557hg38UCSC Ensembl
Outerchr2:119726963..119731703hg38UCSC Ensembl
chr2:120484635..120489183hg19UCSC Ensembl
Innerchr2:120484685..120489133hg19UCSC Ensembl
Outerchr2:120484539..120489279hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg384549
hg194549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10641090
SamplesNA19042
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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