A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14361814



Internal ID4363630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8999011..9003088hg38UCSC Ensembl
Innerchr12:8999056..9003043hg38UCSC Ensembl
Outerchr12:8998966..9003133hg38UCSC Ensembl
chr12:9151607..9155684hg19UCSC Ensembl
Innerchr12:9151652..9155639hg19UCSC Ensembl
Outerchr12:9151562..9155729hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384078
hg194078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628490
Supporting Variants
SamplesHG02284
Known GenesKLRG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14361814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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