A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304452



Internal ID15151400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37866966..37866967hg38UCSC Ensembl
Innerchr13:37866949..37866984hg38UCSC Ensembl
Outerchr13:37866948..37866985hg38UCSC Ensembl
chr13:38441103..38441104hg19UCSC Ensembl
Innerchr13:38441086..38441121hg19UCSC Ensembl
Outerchr13:38441085..38441122hg19UCSC Ensembl
chr13:37339103..37339104hg18UCSC Ensembl
Innerchr13:37339121..37339086hg18UCSC Ensembl
Outerchr13:37339085..37339122hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7779465, essv7829690, essv7811994, essv7836345, essv7806200, essv7818146, essv7781533, essv7807246, essv7797175, essv7832954, essv7825544, essv7826199
SamplesNA18502, NA18861, NA18508, NA18504, NA18870, NA18510, NA18907, NA19099, NA18909, NA19143, NA18501, NA19093
Known GenesTRPC4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304452
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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