A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864801



Internal ID13317416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156706891..156706898hg38UCSC Ensembl
Innerchr7:156706875..156706914hg38UCSC Ensembl
Outerchr7:156706868..156706921hg38UCSC Ensembl
chr7:156499585..156499592hg19UCSC Ensembl
Innerchr7:156499569..156499608hg19UCSC Ensembl
Outerchr7:156499562..156499615hg19UCSC Ensembl
chr7:156192346..156192353hg18UCSC Ensembl
Innerchr7:156192369..156192330hg18UCSC Ensembl
Outerchr7:156192323..156192376hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391203
Supporting Variants
SamplesNA12005
Known GenesLMBR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864801
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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