A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1468501



Internal ID12631623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:820471..820783hg38UCSC Ensembl
chr17:723711..724023hg19UCSC Ensembl
chr17:670461..670773hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4015780
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1468501
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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