A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10682951



Internal ID684767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134994189..135317860hg38UCSC Ensembl
Innerchr2:134994201..135317849hg38UCSC Ensembl
Outerchr2:134994178..135317872hg38UCSC Ensembl
chr2:135751759..136075430hg19UCSC Ensembl
Innerchr2:135751771..136075419hg19UCSC Ensembl
Outerchr2:135751748..136075442hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38323672
hg19323672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592568
Supporting Variants
SamplesNA19020
Known GenesMAP3K19, RAB3GAP1, ZRANB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10682951
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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