A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652201



Internal ID15102294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241178443..241178835hg38UCSC Ensembl
Innerchr2:241178443..241178835hg38UCSC Ensembl
Outerchr2:241178307..241178994hg38UCSC Ensembl
chr2:242117858..242118250hg19UCSC Ensembl
Innerchr2:242117858..242118250hg19UCSC Ensembl
Outerchr2:242117722..242118409hg19UCSC Ensembl
chr2:241766531..241766923hg18UCSC Ensembl
Innerchr2:241766531..241766923hg18UCSC Ensembl
Outerchr2:241766395..241767082hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38393
hg19393
hg18393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397077
Supporting Variants
SamplesNA19240
Known GenesPPP1R7
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652201
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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