A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12094087



Internal ID4435362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148763029..148764260hg38UCSC Ensembl
Innerchr5:148763035..148764254hg38UCSC Ensembl
Outerchr5:148763023..148764266hg38UCSC Ensembl
chr5:148142592..148143823hg19UCSC Ensembl
Innerchr5:148142598..148143817hg19UCSC Ensembl
Outerchr5:148142586..148143829hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381232
hg191232
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607124
Supporting Variants
SamplesHG03945
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12094087
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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