A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691993



Internal ID15065537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156097137..156099635hg38UCSC Ensembl
Innerchr1:156098137..156098635hg38UCSC Ensembl
Outerchr1:156096137..156100635hg38UCSC Ensembl
chr1:156066928..156069426hg19UCSC Ensembl
Innerchr1:156067928..156068426hg19UCSC Ensembl
Outerchr1:156065928..156070426hg19UCSC Ensembl
chr1:154333552..154336050hg18UCSC Ensembl
Innerchr1:154334552..154335050hg18UCSC Ensembl
Outerchr1:154332552..154337050hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3428000
Supporting Variants
SamplesNA19239
Known GenesLMNA, MIR7851
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691993
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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