A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628932



Internal ID6669072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27272710..27273514hg38UCSC Ensembl
Innerchr12:27272710..27273514hg38UCSC Ensembl
Outerchr12:27272351..27273807hg38UCSC Ensembl
chr12:27425643..27426447hg19UCSC Ensembl
Innerchr12:27425643..27426447hg19UCSC Ensembl
Outerchr12:27425284..27426740hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14417221, essv14417229, essv14417223, essv14417228, essv14417230, essv14417225, essv14417227, essv14417231, essv14417224, essv14417220, essv14417222, essv14417226
SamplesNA18616, HG02355, NA18557, HG00556, HG00403, HG00436, HG02382, HG00525, NA18562, NA18606, HG02141, HG00531
Known GenesSTK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628932
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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