A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607323



Internal ID6994257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157876371..157877562hg38UCSC Ensembl
Innerchr5:157876371..157877562hg38UCSC Ensembl
Outerchr5:157876087..157877897hg38UCSC Ensembl
chr5:157303379..157304570hg19UCSC Ensembl
Innerchr5:157303379..157304570hg19UCSC Ensembl
Outerchr5:157303095..157304905hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12111599, essv12111601, essv12111600, essv12111603, essv12111602
SamplesHG01853, HG00464, HG00844, NA18646, HG00631
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607323
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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