A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11590833



Internal ID1592649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122712761..122714251hg38UCSC Ensembl
Innerchr4:122712761..122714251hg38UCSC Ensembl
Outerchr4:122712455..122714510hg38UCSC Ensembl
chr4:123633916..123635406hg19UCSC Ensembl
Innerchr4:123633916..123635406hg19UCSC Ensembl
Outerchr4:123633610..123635665hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381491
hg191491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602031
Supporting Variants
SamplesHG01914
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11590833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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