A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12351521



Internal ID2353337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52761463..52762081hg38UCSC Ensembl
Innerchr6:52761463..52762081hg38UCSC Ensembl
Outerchr6:52761173..52762449hg38UCSC Ensembl
chr6:52626261..52626879hg19UCSC Ensembl
Innerchr6:52626261..52626879hg19UCSC Ensembl
Outerchr6:52625971..52627247hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609004
Supporting Variants
SamplesHG01058
Known GenesGSTA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12351521
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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