A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12577524



Internal ID2118604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147310871..147313781hg38UCSC Ensembl
Innerchr6:147310895..147313758hg38UCSC Ensembl
Outerchr6:147310848..147313805hg38UCSC Ensembl
chr6:147632007..147634917hg19UCSC Ensembl
Innerchr6:147632031..147634894hg19UCSC Ensembl
Outerchr6:147631984..147634941hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg382911
hg192911
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611167
Supporting Variants
SamplesHG01924
Known GenesSTXBP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12577524
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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