A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606961



Internal ID6647203
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12077323, essv12077321, essv12077322
SamplesHG03577, HG01958, HG00656
Known GenesPCDHB2, PCDHB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606961
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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