A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671414



Internal ID14713912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869203..148869769hg38UCSC Ensembl
Innerchr7:148869210..148869762hg38UCSC Ensembl
Outerchr7:148869196..148869776hg38UCSC Ensembl
chr7:148566295..148566861hg19UCSC Ensembl
Innerchr7:148566302..148566854hg19UCSC Ensembl
Outerchr7:148566288..148566868hg19UCSC Ensembl
chr7:148197228..148197794hg18UCSC Ensembl
Innerchr7:148197235..148197787hg18UCSC Ensembl
Outerchr7:148197221..148197801hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38567
hg19567
hg18567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361481
Supporting Variants
SamplesNA19239
Known GenesEZH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671414
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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