A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12190046



Internal ID1338582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12828336..12829771hg38UCSC Ensembl
Innerchr6:12828336..12829771hg38UCSC Ensembl
Outerchr6:12828279..12829838hg38UCSC Ensembl
chr6:12828568..12830003hg19UCSC Ensembl
Innerchr6:12828568..12830003hg19UCSC Ensembl
Outerchr6:12828511..12830070hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381436
hg191436
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608117
Supporting Variants
SamplesHG01177
Known GenesPHACTR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12190046
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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