A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651862



Internal ID15100231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6949804..6950186hg38UCSC Ensembl
Innerchr12:6949804..6950186hg38UCSC Ensembl
Outerchr12:6948760..6950630hg38UCSC Ensembl
chr12:7058967..7059349hg19UCSC Ensembl
Innerchr12:7058967..7059349hg19UCSC Ensembl
Outerchr12:7057923..7059793hg19UCSC Ensembl
chr12:6929228..6929610hg18UCSC Ensembl
Innerchr12:6929228..6929610hg18UCSC Ensembl
Outerchr12:6928184..6930054hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38383
hg19383
hg18383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3356433
Supporting Variants
SamplesNA19240
Known GenesPTPN6
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651862
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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