A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12077322



Internal ID2079138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141097153..141102253hg38UCSC Ensembl
Innerchr5:141097153..141102253hg38UCSC Ensembl
Outerchr5:141096653..141102753hg38UCSC Ensembl
chr5:140476737..140481837hg19UCSC Ensembl
Innerchr5:140476737..140481837hg19UCSC Ensembl
Outerchr5:140476237..140482337hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606961
Supporting Variants
SamplesHG01958
Known GenesPCDHB2, PCDHB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12077322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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