A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14375699



Internal ID4377515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10428819..10434234hg38UCSC Ensembl
chr12:10581418..10586833hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385416
hg195416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628539
Supporting Variants
SamplesHG02851
Known GenesKLRC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14375699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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