A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583166



Internal ID7054548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41184552..41184608hg38UCSC Ensembl
chr17:39340804..39340860hg19UCSC Ensembl
chr17:36594330..36594386hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996733
Supporting Variants
SamplesHuRef
Known GenesKRTAP4-1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583166
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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