A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652096



Internal ID14755027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69915749..69916443hg38UCSC Ensembl
Innerchr1:69915749..69916443hg38UCSC Ensembl
Outerchr1:69914882..69917565hg38UCSC Ensembl
chr1:70381432..70382126hg19UCSC Ensembl
Innerchr1:70381432..70382126hg19UCSC Ensembl
Outerchr1:70380565..70383248hg19UCSC Ensembl
chr1:70154020..70154714hg18UCSC Ensembl
Innerchr1:70154020..70154714hg18UCSC Ensembl
Outerchr1:70153153..70155836hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382626
Supporting Variants
SamplesNA19240
Known GenesLRRC7
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652096
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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