A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864447



Internal ID12970256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42683967..42683976hg38UCSC Ensembl
Innerchr5:42683969..42683974hg38UCSC Ensembl
Outerchr5:42683965..42683978hg38UCSC Ensembl
chr5:42684069..42684078hg19UCSC Ensembl
Innerchr5:42684071..42684076hg19UCSC Ensembl
Outerchr5:42684067..42684080hg19UCSC Ensembl
chr5:42719826..42719835hg18UCSC Ensembl
Innerchr5:42719828..42719833hg18UCSC Ensembl
Outerchr5:42719824..42719837hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398487
Supporting Variants
SamplesNA12005
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864447
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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