A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9956809



Internal ID6582102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65283752..65299660hg38UCSC Ensembl
Innerchr1:65283752..65299660hg38UCSC Ensembl
Outerchr1:65283252..65300160hg38UCSC Ensembl
chr1:65749435..65765343hg19UCSC Ensembl
Innerchr1:65749435..65765343hg19UCSC Ensembl
Outerchr1:65748935..65765843hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3815909
hg1915909
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586278
Supporting Variants
SamplesNA12340
Known GenesDNAJC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9956809
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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