A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10634156



Internal ID5107000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114970401..114983923hg38UCSC Ensembl
Innerchr2:114970401..114983923hg38UCSC Ensembl
Outerchr2:114970152..114984059hg38UCSC Ensembl
chr2:115727978..115741500hg19UCSC Ensembl
Innerchr2:115727978..115741500hg19UCSC Ensembl
Outerchr2:115727729..115741636hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3813523
hg1913523
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592062
Supporting Variants
SamplesNA18557
Known GenesDPP10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10634156
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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