A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672766



Internal ID9592185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844081..140848037hg38UCSC Ensembl
Outerchr5:140843710..140848407hg38UCSC Ensembl
Innerchr5:140223666..140227622hg19UCSC Ensembl
Outerchr5:140223295..140227992hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384698
hg194698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1044e199
Supporting Variantsessv6404826, essv6462973, essv5876904, essv6197227, essv6185516, essv5789503, essv6255305, essv5799793
SamplesNA18563, NA18597, NA18635, NA18560, NA18557, NA18637, NA18610, NA18609
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)esv2672766
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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