A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4169904



Internal ID11452442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41184559..41184616hg38UCSC Ensembl
chr17:39340811..39340868hg19UCSC Ensembl
chr17:36594337..36594394hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1330095
Supporting Variants
SamplesHuRef
Known GenesKRTAP4-1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4169904
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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