A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12649165



Internal ID2207412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169534948..169539613hg38UCSC Ensembl
Innerchr6:169535098..169539463hg38UCSC Ensembl
Outerchr6:169534798..169539763hg38UCSC Ensembl
chr6:169935044..169939709hg19UCSC Ensembl
Innerchr6:169935194..169939559hg19UCSC Ensembl
Outerchr6:169934894..169939859hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384666
hg194666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611716
Supporting Variants
SamplesHG01986
Known GenesWDR27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12649165
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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