A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12104267



Internal ID792535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154310425..154314376hg38UCSC Ensembl
Innerchr5:154310427..154314375hg38UCSC Ensembl
Outerchr5:154310424..154314378hg38UCSC Ensembl
chr5:153689985..153693936hg19UCSC Ensembl
Innerchr5:153689987..153693935hg19UCSC Ensembl
Outerchr5:153689984..153693938hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383952
hg193952
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607239
Supporting Variants
SamplesHG00376
Known GenesGALNT10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12104267
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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