A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12351334



Internal ID2353150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52760967..52802007hg38UCSC Ensembl
Innerchr6:52761117..52801857hg38UCSC Ensembl
Outerchr6:52760817..52802157hg38UCSC Ensembl
chr6:52625765..52666805hg19UCSC Ensembl
Innerchr6:52625915..52666655hg19UCSC Ensembl
Outerchr6:52625615..52666955hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3841041
hg1941041
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609002
Supporting Variants
SamplesHG01815
Known GenesGSTA1, GSTA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12351334
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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