A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843525



Internal ID14737639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101747481..101748075hg38UCSC Ensembl
Outerchr12:101747481..101748075hg38UCSC Ensembl
Innerchr12:102141259..102141853hg19UCSC Ensembl
Outerchr12:102141259..102141853hg19UCSC Ensembl
Innerchr12:100665984..100665390hg18UCSC Ensembl
Outerchr12:100665390..100665984hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310570
Supporting Variants
SamplesNA19240
Known GenesGNPTAB
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843525
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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