A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9979856



Internal ID6605149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77113343..77115270hg38UCSC Ensembl
Innerchr1:77113344..77115269hg38UCSC Ensembl
Outerchr1:77113342..77115271hg38UCSC Ensembl
chr1:77579028..77580955hg19UCSC Ensembl
Innerchr1:77579029..77580954hg19UCSC Ensembl
Outerchr1:77579027..77580956hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381928
hg191928
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586517
Supporting Variants
SamplesNA21142
Known GenesPIGK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9979856
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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