A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12046146



Internal ID709753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124312108..124313610hg38UCSC Ensembl
Innerchr5:124312131..124313588hg38UCSC Ensembl
Outerchr5:124312086..124313633hg38UCSC Ensembl
chr5:123647801..123649303hg19UCSC Ensembl
Innerchr5:123647824..123649281hg19UCSC Ensembl
Outerchr5:123647779..123649326hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381503
hg191503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606629
Supporting Variants
SamplesHG00332
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12046146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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