A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4020247



Internal ID11741626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4191461..4192108hg38UCSC Ensembl
chr17:4094756..4095403hg19UCSC Ensembl
chr17:4041505..4042152hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38648
hg19648
hg18648
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1497662
Supporting Variants
SamplesHuRef
Known GenesANKFY1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4020247
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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