A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12077200



Internal ID2079016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140842689..140859762hg38UCSC Ensembl
Innerchr5:140843189..140859262hg38UCSC Ensembl
Outerchr5:140841689..140860762hg38UCSC Ensembl
chr5:140222274..140239347hg19UCSC Ensembl
Innerchr5:140222774..140238847hg19UCSC Ensembl
Outerchr5:140221274..140240347hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3817074
hg1917074
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606958
Supporting Variants
SamplesHG03986
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12077200
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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