A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688915



Internal ID15048509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28442715..28444413hg38UCSC Ensembl
Innerchr13:28443413..28443715hg38UCSC Ensembl
Outerchr13:28441715..28445413hg38UCSC Ensembl
chr13:29016852..29018550hg19UCSC Ensembl
Innerchr13:29017550..29017852hg19UCSC Ensembl
Outerchr13:29015852..29019550hg19UCSC Ensembl
chr13:27914852..27916550hg18UCSC Ensembl
Innerchr13:27915852..27915550hg18UCSC Ensembl
Outerchr13:27913852..27917550hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412790
Supporting Variants
SamplesNA19239
Known GenesFLT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688915
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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