A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14349699



Internal ID2529979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7739134..7745899hg38UCSC Ensembl
Innerchr12:7739634..7745399hg38UCSC Ensembl
Outerchr12:7738134..7746899hg38UCSC Ensembl
chr12:7891730..7898495hg19UCSC Ensembl
Innerchr12:7892230..7897995hg19UCSC Ensembl
Outerchr12:7890730..7899495hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386766
hg196766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628439
Supporting Variants
SamplesHG02250
Known GenesCLEC4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14349699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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