A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12577523



Internal ID2952433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147296416..147300099hg38UCSC Ensembl
Innerchr6:147296417..147300098hg38UCSC Ensembl
Outerchr6:147296415..147300100hg38UCSC Ensembl
chr6:147617552..147621235hg19UCSC Ensembl
Innerchr6:147617553..147621234hg19UCSC Ensembl
Outerchr6:147617551..147621236hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg383684
hg193684
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611166
Supporting Variants
SamplesHG02610
Known GenesSTXBP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12577523
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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