A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606987



Internal ID6647229
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12079326, essv12079325, essv12079324
SamplesHG00335, HG00321, HG00381
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)esv3606987
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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