A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10663536



Internal ID5540096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127168558..127172096hg38UCSC Ensembl
Innerchr2:127168708..127171946hg38UCSC Ensembl
Outerchr2:127168408..127172246hg38UCSC Ensembl
chr2:127926134..127929672hg19UCSC Ensembl
Innerchr2:127926284..127929522hg19UCSC Ensembl
Outerchr2:127925984..127929822hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383539
hg193539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592351
Supporting Variants
SamplesNA19001
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10663536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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