A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9879297



Internal ID6504590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19685847..19688532hg38UCSC Ensembl
Innerchr1:19685874..19688506hg38UCSC Ensembl
Outerchr1:19685821..19688559hg38UCSC Ensembl
chr1:20012340..20015025hg19UCSC Ensembl
Innerchr1:20012367..20014999hg19UCSC Ensembl
Outerchr1:20012314..20015052hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382686
hg192686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585405
Supporting Variants
SamplesHG03376
Known GenesTMCO4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9879297
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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