A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10663661



Internal ID4913753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127458801..127460481hg38UCSC Ensembl
Innerchr2:127458842..127460440hg38UCSC Ensembl
Outerchr2:127458760..127460522hg38UCSC Ensembl
chr2:128216377..128218057hg19UCSC Ensembl
Innerchr2:128216418..128218016hg19UCSC Ensembl
Outerchr2:128216336..128218098hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381681
hg191681
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592361
Supporting Variants
SamplesNA12750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10663661
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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