A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12448719



Internal ID2388422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79802637..79808355hg38UCSC Ensembl
Innerchr6:79802654..79808339hg38UCSC Ensembl
Outerchr6:79802621..79808372hg38UCSC Ensembl
chr6:80512354..80518072hg19UCSC Ensembl
Innerchr6:80512371..80518056hg19UCSC Ensembl
Outerchr6:80512338..80518089hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg385719
hg195719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609700
Supporting Variants
SamplesHG02116
Known GenesC6orf7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12448719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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