A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7760649



Internal ID14149740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76631826..76631827hg38UCSC Ensembl
Innerchr17:76631741..76631912hg38UCSC Ensembl
Outerchr17:76631740..76631913hg38UCSC Ensembl
chr17:74627908..74627909hg19UCSC Ensembl
Innerchr17:74627823..74627994hg19UCSC Ensembl
Outerchr17:74627822..74627995hg19UCSC Ensembl
chr17:72139503..72139504hg18UCSC Ensembl
Innerchr17:72139589..72139418hg18UCSC Ensembl
Outerchr17:72139417..72139590hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305624
Supporting Variants
SamplesNA18944
Known GenesST6GALNAC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7760649
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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