A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605130



Internal ID6992158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57108542..57109776hg38UCSC Ensembl
Innerchr5:57108588..57109731hg38UCSC Ensembl
Outerchr5:57108497..57109822hg38UCSC Ensembl
chr5:56404369..56405603hg19UCSC Ensembl
Innerchr5:56404415..56405558hg19UCSC Ensembl
Outerchr5:56404324..56405649hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11913517, essv11913520, essv11913519, essv11913518
SamplesHG02427, HG02537, HG01392, NA18873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605130
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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