A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864732



Internal ID13317326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74670712..74670722hg38UCSC Ensembl
Innerchr7:74670692..74670742hg38UCSC Ensembl
Outerchr7:74670682..74670752hg38UCSC Ensembl
chr7:74085037..74085047hg19UCSC Ensembl
Innerchr7:74085017..74085067hg19UCSC Ensembl
Outerchr7:74085007..74085077hg19UCSC Ensembl
chr7:73722973..73722983hg18UCSC Ensembl
Innerchr7:73723003..73722953hg18UCSC Ensembl
Outerchr7:73722943..73723013hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414828
Supporting Variants
SamplesNA12005
Known GenesGTF2I
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864732
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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