A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179136



Internal ID5186897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3574699..3583945hg38UCSC Ensembl
Innerchr6:3574699..3583945hg38UCSC Ensembl
Outerchr6:3574554..3584151hg38UCSC Ensembl
chr6:3574933..3584179hg19UCSC Ensembl
Innerchr6:3574933..3584179hg19UCSC Ensembl
Outerchr6:3574788..3584385hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg389247
hg199247
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607934
Supporting Variants
SamplesNA18609
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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