A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12565652



Internal ID6285917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138186884..138196033hg38UCSC Ensembl
Innerchr6:138186884..138196033hg38UCSC Ensembl
Outerchr6:138186744..138196181hg38UCSC Ensembl
chr6:138508021..138517170hg19UCSC Ensembl
Innerchr6:138508021..138517170hg19UCSC Ensembl
Outerchr6:138507881..138517318hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610954
Supporting Variants
SamplesNA19819
Known GenesKIAA1244
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12565652
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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