A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12077311



Internal ID488785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140895084..140905109hg38UCSC Ensembl
chr5:140274669..140284694hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810026
hg1910026
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606959
Supporting Variants
SamplesHG00171
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12077311
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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