A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12479402



Internal ID2481218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99956532..99962793hg38UCSC Ensembl
Innerchr6:99956532..99962793hg38UCSC Ensembl
Outerchr6:99956328..99962986hg38UCSC Ensembl
chr6:100404408..100410669hg19UCSC Ensembl
Innerchr6:100404408..100410669hg19UCSC Ensembl
Outerchr6:100404204..100410862hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg386262
hg196262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610133
Supporting Variants
SamplesNA19921
Known GenesMCHR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12479402
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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