A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179587



Internal ID585094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4996595..4998693hg38UCSC Ensembl
Innerchr6:4996595..4998693hg38UCSC Ensembl
Outerchr6:4996323..4998937hg38UCSC Ensembl
chr6:4996829..4998927hg19UCSC Ensembl
Innerchr6:4996829..4998927hg19UCSC Ensembl
Outerchr6:4996557..4999171hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg382099
hg192099
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607963
Supporting Variants
SamplesHG00256
Known GenesRPP40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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