A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440505



Internal ID14940772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121514705..121515405hg38UCSC Ensembl
Innerchr12:121514705..121515405hg38UCSC Ensembl
Outerchr12:121514146..121515939hg38UCSC Ensembl
chr12:121952508..121953208hg19UCSC Ensembl
Innerchr12:121952508..121953208hg19UCSC Ensembl
Outerchr12:121951949..121953742hg19UCSC Ensembl
chr12:120436891..120437591hg18UCSC Ensembl
Innerchr12:120436891..120437591hg18UCSC Ensembl
Outerchr12:120436332..120438125hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38701
hg19701
hg18701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651846
SamplesNA19240
Known GenesKDM2B
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440505
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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