A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629524



Internal ID6669663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52688070..52835680hg38UCSC Ensembl
Innerchr12:52688220..52835530hg38UCSC Ensembl
Outerchr12:52687920..52835830hg38UCSC Ensembl
chr12:53081854..53229464hg19UCSC Ensembl
Innerchr12:53082004..53229314hg19UCSC Ensembl
Outerchr12:53081704..53229614hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38147611
hg19147611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14483127, essv14483126, essv14483125, essv14483124, essv14483129, essv14483128
SamplesHG00403, HG00634, NA20759, HG02322, HG00623, HG01357
Known GenesKRT3, KRT4, KRT76, KRT77, KRT79
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629524
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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