A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592377



Internal ID6632660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128063956..128069555hg38UCSC Ensembl
Innerchr2:128063956..128069555hg38UCSC Ensembl
Outerchr2:128063607..128069907hg38UCSC Ensembl
chr2:128821530..128827129hg19UCSC Ensembl
Innerchr2:128821530..128827129hg19UCSC Ensembl
Outerchr2:128821181..128827481hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10664868, essv10664872, essv10664869, essv10664873, essv10664867, essv10664870, essv10664871
SamplesNA19394, NA18507, HG01924, HG02442, HG02484, HG01915, NA19468
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592377
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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