A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11949202



Internal ID5106845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77707053..77707859hg38UCSC Ensembl
Innerchr5:77707053..77707859hg38UCSC Ensembl
Outerchr5:77706693..77708192hg38UCSC Ensembl
chr5:77002878..77003684hg19UCSC Ensembl
Innerchr5:77002878..77003684hg19UCSC Ensembl
Outerchr5:77002518..77004017hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605494
Supporting Variants
SamplesNA18557
Known GenesTBCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11949202
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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