A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12503171



Internal ID2504987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110749809..110750365hg38UCSC Ensembl
Innerchr6:110749809..110750365hg38UCSC Ensembl
Outerchr6:110749809..110750365hg38UCSC Ensembl
chr6:111071012..111071568hg19UCSC Ensembl
Innerchr6:111071012..111071568hg19UCSC Ensembl
Outerchr6:111071012..111071568hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610365
Supporting Variants
SamplesNA18633
Known GenesCDK19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12503171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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