A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11315981



Internal ID1317797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1700478..1704144hg38UCSC Ensembl
Innerchr4:1700501..1704122hg38UCSC Ensembl
Outerchr4:1700456..1704167hg38UCSC Ensembl
chr4:1702205..1705871hg19UCSC Ensembl
Innerchr4:1702228..1705849hg19UCSC Ensembl
Outerchr4:1702183..1705894hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383667
hg193667
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599394
Supporting Variants
SamplesHG00368
Known GenesSLBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11315981
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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