A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576251



Internal ID1008681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144864040..145013139hg38UCSC Ensembl
Innerchr6:144864043..145013137hg38UCSC Ensembl
Outerchr6:144864038..145013142hg38UCSC Ensembl
chr6:145185176..145334275hg19UCSC Ensembl
Innerchr6:145185179..145334273hg19UCSC Ensembl
Outerchr6:145185174..145334278hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38149100
hg19149100
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611122
Supporting Variants
SamplesHG00631
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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