A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12355274



Internal ID1767511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53613671..53615819hg38UCSC Ensembl
Innerchr6:53613671..53615819hg38UCSC Ensembl
Outerchr6:53613425..53616046hg38UCSC Ensembl
chr6:53478469..53480617hg19UCSC Ensembl
Innerchr6:53478469..53480617hg19UCSC Ensembl
Outerchr6:53478223..53480844hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609029
Supporting Variants
SamplesHG01625
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12355274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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