A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693620



Internal ID14727732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29876082..29876980hg38UCSC Ensembl
Innerchr2:29876081..29876981hg38UCSC Ensembl
Outerchr2:29875082..29877980hg38UCSC Ensembl
chr2:30098948..30099846hg19UCSC Ensembl
Innerchr2:30098947..30099847hg19UCSC Ensembl
Outerchr2:30097948..30100846hg19UCSC Ensembl
chr2:29952452..29953350hg18UCSC Ensembl
Innerchr2:29953351..29952451hg18UCSC Ensembl
Outerchr2:29951452..29954350hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336141
Supporting Variants
SamplesNA19240
Known GenesALK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693620
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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