A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12420329



Internal ID728065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73477993..73479278hg38UCSC Ensembl
Innerchr6:73477993..73479278hg38UCSC Ensembl
Outerchr6:73477751..73479539hg38UCSC Ensembl
chr6:74187716..74189001hg19UCSC Ensembl
Innerchr6:74187716..74189001hg19UCSC Ensembl
Outerchr6:74187474..74189262hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609511
Supporting Variants
SamplesHG00342
Known GenesMTO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12420329
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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