A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179520



Internal ID3781058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4725918..4729538hg38UCSC Ensembl
Innerchr6:4725918..4729538hg38UCSC Ensembl
Outerchr6:4725699..4729840hg38UCSC Ensembl
chr6:4726152..4729772hg19UCSC Ensembl
Innerchr6:4726152..4729772hg19UCSC Ensembl
Outerchr6:4725933..4730074hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg383621
hg193621
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607955
Supporting Variants
SamplesHG03432
Known GenesCDYL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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