A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863921



Internal ID13316392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74176765..74176778hg38UCSC Ensembl
Innerchr2:74176741..74176802hg38UCSC Ensembl
Outerchr2:74176728..74176815hg38UCSC Ensembl
chr2:74403892..74403905hg19UCSC Ensembl
Innerchr2:74403868..74403929hg19UCSC Ensembl
Outerchr2:74403855..74403942hg19UCSC Ensembl
chr2:74257400..74257413hg18UCSC Ensembl
Innerchr2:74257437..74257376hg18UCSC Ensembl
Outerchr2:74257363..74257450hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364261
Supporting Variants
SamplesNA12005
Known GenesMOB1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863921
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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