A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607656



Internal ID6647896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175828510..175830629hg38UCSC Ensembl
Innerchr5:175828510..175830629hg38UCSC Ensembl
Outerchr5:175828246..175830898hg38UCSC Ensembl
chr5:175255513..175257632hg19UCSC Ensembl
Innerchr5:175255513..175257632hg19UCSC Ensembl
Outerchr5:175255249..175257901hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382120
hg192120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12139513, essv12139512
SamplesHG00306, HG00707
Known GenesCPLX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607656
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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