A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12079326



Internal ID2081142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141415048..141430227hg38UCSC Ensembl
chr5:140794615..140809794hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3815180
hg1915180
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606987
Supporting Variants
SamplesHG00381
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGB8P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12079326
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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