A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6131117



Internal ID9108520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140843781..140848737hg38UCSC Ensembl
Outerchr5:140843410..140849107hg38UCSC Ensembl
Innerchr5:140223366..140228322hg19UCSC Ensembl
Outerchr5:140222995..140228692hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385698
hg195698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673132
Supporting Variants
SamplesNA19319
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6131117
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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