A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11950263



Internal ID5943148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78607129..78611889hg38UCSC Ensembl
Innerchr5:78607137..78611882hg38UCSC Ensembl
Outerchr5:78607122..78611897hg38UCSC Ensembl
chr5:77902952..77907712hg19UCSC Ensembl
Innerchr5:77902960..77907705hg19UCSC Ensembl
Outerchr5:77902945..77907720hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384761
hg194761
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605511
Supporting Variants
SamplesNA19351
Known GenesLHFPL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11950263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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