A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483419



Internal ID2116464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52938761..52943250hg38UCSC Ensembl
Innerchr12:52938811..52943200hg38UCSC Ensembl
Outerchr12:52938667..52943344hg38UCSC Ensembl
chr12:53332545..53337034hg19UCSC Ensembl
Innerchr12:53332595..53336984hg19UCSC Ensembl
Outerchr12:53332451..53337128hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384490
hg194490
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629533
Supporting Variants
SamplesHG01923
Known GenesKRT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483419
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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