A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652095



Internal ID15101591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6940760..6940979hg38UCSC Ensembl
Innerchr1:6940760..6940979hg38UCSC Ensembl
Outerchr1:6940535..6941517hg38UCSC Ensembl
chr1:7000820..7001039hg19UCSC Ensembl
Innerchr1:7000820..7001039hg19UCSC Ensembl
Outerchr1:7000595..7001577hg19UCSC Ensembl
chr1:6923407..6923626hg18UCSC Ensembl
Innerchr1:6923407..6923626hg18UCSC Ensembl
Outerchr1:6923182..6924164hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351162
Supporting Variants
SamplesNA19240
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652095
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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