A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12351387



Internal ID2353203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52761458..52762349hg38UCSC Ensembl
Innerchr6:52761608..52762199hg38UCSC Ensembl
Outerchr6:52761308..52762499hg38UCSC Ensembl
chr6:52626256..52627147hg19UCSC Ensembl
Innerchr6:52626406..52626997hg19UCSC Ensembl
Outerchr6:52626106..52627297hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609003
Supporting Variants
SamplesHG01456
Known GenesGSTA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12351387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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