A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12129090



Internal ID628980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170438053..170442692hg38UCSC Ensembl
Innerchr5:170438053..170442692hg38UCSC Ensembl
Outerchr5:170437805..170442962hg38UCSC Ensembl
chr5:169865057..169869696hg19UCSC Ensembl
Innerchr5:169865057..169869696hg19UCSC Ensembl
Outerchr5:169864809..169869966hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384640
hg194640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607564
Supporting Variants
SamplesHG00275
Known GenesKCNIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12129090
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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