A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407491



Internal ID15254453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36323565..36323585hg38UCSC Ensembl
Innerchr4:36323564..36323583hg38UCSC Ensembl
Outerchr4:36323547..36323603hg38UCSC Ensembl
chr4:36325187..36325207hg19UCSC Ensembl
Innerchr4:36325186..36325205hg19UCSC Ensembl
Outerchr4:36325169..36325225hg19UCSC Ensembl
chr4:36001582..36001602hg18UCSC Ensembl
Innerchr4:36001600..36001581hg18UCSC Ensembl
Outerchr4:36001564..36001620hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8918163, essv8918151, essv8918156, essv8918157, essv8918160, essv8918154, essv8918148, essv8918161, essv8918149, essv8918173, essv8918150, essv8918164, essv8918165, essv8918155, essv8918159, essv8918153, essv8918171, essv8918166, essv8918162, essv8918167, essv8918168, essv8918172, essv8918152, essv8918170
SamplesNA11830, NA11995, NA11829, NA18592, NA10851, NA11931, NA12751, NA12750, NA12155, NA18563, NA12761, NA12044, NA11994, NA11993, NA11831, NA12489, NA18853, NA12144, NA12043, NA18953, NA18952, NA12763, NA12006, NA12776
Known GenesDTHD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407491
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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