A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179512



Internal ID2181328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4700930..4708757hg38UCSC Ensembl
Innerchr6:4700996..4708692hg38UCSC Ensembl
Outerchr6:4700865..4708823hg38UCSC Ensembl
chr6:4701164..4708991hg19UCSC Ensembl
Innerchr6:4701230..4708926hg19UCSC Ensembl
Outerchr6:4701099..4709057hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg387828
hg197828
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607953
Supporting Variants
SamplesNA20790
Known GenesCDYL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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