A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9847534



Internal ID6472827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7915221..7918142hg38UCSC Ensembl
Innerchr1:7915251..7918112hg38UCSC Ensembl
Outerchr1:7915191..7918172hg38UCSC Ensembl
chr1:7975281..7978202hg19UCSC Ensembl
Innerchr1:7975311..7978172hg19UCSC Ensembl
Outerchr1:7975251..7978232hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382922
hg192922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585133
Supporting Variants
SamplesHG01531
Known GenesTNFRSF9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9847534
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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