A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3322803



Internal ID15169777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85787414..85787429hg38UCSC Ensembl
Innerchr13:85787408..85787435hg38UCSC Ensembl
Outerchr13:85787393..85787450hg38UCSC Ensembl
chr13:86361549..86361564hg19UCSC Ensembl
Innerchr13:86361543..86361570hg19UCSC Ensembl
Outerchr13:86361528..86361585hg19UCSC Ensembl
chr13:85259550..85259565hg18UCSC Ensembl
Innerchr13:85259571..85259544hg18UCSC Ensembl
Outerchr13:85259529..85259586hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8962694, essv8962684, essv8962689, essv8962682, essv8962688, essv8962691, essv8962686, essv8962704, essv8962680, essv8962673, essv8962683, essv8962700, essv8962679, essv8962705, essv8962677, essv8962699, essv8962696, essv8962687, essv8962676, essv8962698, essv8962685, essv8962697, essv8962690, essv8962702, essv8962674, essv8962678, essv8962695, essv8962675, essv8962693, essv8962701
SamplesNA18502, NA12717, NA11830, NA18947, NA18592, NA10851, NA18980, NA11931, NA18603, NA18563, NA18944, NA18550, NA18942, NA18949, NA12761, NA12828, NA18973, NA11993, NA18605, NA12489, NA18956, NA18948, NA18566, NA11894, NA12249, NA18952, NA18564, NA07037, NA07000, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3322803
Frequency
Sample Size185
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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