A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1040276



Internal ID12203401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82984130..82984304hg38UCSC Ensembl
chr17:80942006..80942180hg19UCSC Ensembl
chr17:78535295..78535469hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4051941
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1040276
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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