A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12432500



Internal ID5175040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:76545383..76581173hg38UCSC Ensembl
Innerchr6:76545383..76581173hg38UCSC Ensembl
Outerchr6:76544883..76581673hg38UCSC Ensembl
chr6:77255100..77290890hg19UCSC Ensembl
Innerchr6:77255100..77290890hg19UCSC Ensembl
Outerchr6:77254600..77291390hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3835791
hg1935791
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609606
Supporting Variants
SamplesNA18602
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12432500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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