A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609492



Internal ID6996413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72740481..72741618hg38UCSC Ensembl
Innerchr6:72740497..72741602hg38UCSC Ensembl
Outerchr6:72740465..72741634hg38UCSC Ensembl
chr6:73450204..73451341hg19UCSC Ensembl
Innerchr6:73450220..73451325hg19UCSC Ensembl
Outerchr6:73450188..73451357hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381138
hg191138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12419132
SamplesHG03224
Known GenesKCNQ5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609492
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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