A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430170



Internal ID14930440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148403067..148403117hg38UCSC Ensembl
Innerchr7:148403067..148403117hg38UCSC Ensembl
Outerchr7:148402453..148403692hg38UCSC Ensembl
chr7:148100159..148100209hg19UCSC Ensembl
Innerchr7:148100159..148100209hg19UCSC Ensembl
Outerchr7:148099545..148100784hg19UCSC Ensembl
chr7:147731092..147731142hg18UCSC Ensembl
Innerchr7:147731092..147731142hg18UCSC Ensembl
Outerchr7:147730478..147731717hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652357
SamplesNA19240
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430170
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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