A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12227035



Internal ID1418954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:23858021..23930077hg38UCSC Ensembl
Innerchr6:23858021..23930077hg38UCSC Ensembl
Outerchr6:23857521..23930577hg38UCSC Ensembl
chr6:23858249..23930305hg19UCSC Ensembl
Innerchr6:23858249..23930305hg19UCSC Ensembl
Outerchr6:23857749..23930805hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3872057
hg1972057
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608357
Supporting Variants
SamplesHG01286
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12227035
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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