A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701412



Internal ID13643507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100451757..100451757hg38UCSC Ensembl
Innerchr3:100451756..100451758hg38UCSC Ensembl
Outerchr3:100451707..100451807hg38UCSC Ensembl
chr3:100170601..100170601hg19UCSC Ensembl
Innerchr3:100170600..100170602hg19UCSC Ensembl
Outerchr3:100170551..100170651hg19UCSC Ensembl
chr3:101653291..101653291hg18UCSC Ensembl
Innerchr3:101653292..101653290hg18UCSC Ensembl
Outerchr3:101653241..101653341hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329674
Supporting Variants
SamplesNA12878
Known GenesLNP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701412
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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