A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382287



Internal ID14882562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152376034..152385032hg38UCSC Ensembl
Innerchr7:152377034..152384032hg38UCSC Ensembl
Outerchr7:152375034..152386032hg38UCSC Ensembl
chr7:152073119..152082117hg19UCSC Ensembl
Innerchr7:152074119..152081117hg19UCSC Ensembl
Outerchr7:152072119..152083117hg19UCSC Ensembl
chr7:151704052..151713050hg18UCSC Ensembl
Innerchr7:151705052..151712050hg18UCSC Ensembl
Outerchr7:151703052..151714050hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg388999
hg198999
hg188999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3997e59
Supporting Variantsessv8695641
SamplesNA12878
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382287
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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