A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12451315



Internal ID5741561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:81421634..81428576hg38UCSC Ensembl
Innerchr6:81421634..81428576hg38UCSC Ensembl
Outerchr6:81421134..81429076hg38UCSC Ensembl
chr6:82131351..82138293hg19UCSC Ensembl
Innerchr6:82131351..82138293hg19UCSC Ensembl
Outerchr6:82130851..82138793hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg386943
hg196943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609747
Supporting Variants
SamplesNA19116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12451315
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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