A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606971



Internal ID6993906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141188879..141193129hg38UCSC Ensembl
chr5:140568452..140572702hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384251
hg194251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12078692, essv12078695, essv12078694, essv12078699, essv12078693, essv12078698, essv12078697, essv12078696
SamplesHG03096, HG03074, HG02325, HG01771, HG02511, HG03833, HG03112, HG02760
Known GenesPCDHB10, PCDHB9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606971
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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