A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7127136



Internal ID10058732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52294714..52389421hg38UCSC Ensembl
Outerchr12:52688498..52783205hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3894708
hg1994708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2857569
Supporting Variants
SamplesHuRef
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7127136
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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