A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605160



Internal ID6992188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58652906..58659077hg38UCSC Ensembl
Innerchr5:58652924..58659059hg38UCSC Ensembl
Outerchr5:58652888..58659095hg38UCSC Ensembl
chr5:57948733..57954904hg19UCSC Ensembl
Innerchr5:57948751..57954886hg19UCSC Ensembl
Outerchr5:57948715..57954922hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386172
hg196172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11920824, essv11920825
SamplesHG02371, HG01028
Known GenesRAB3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605160
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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