A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4051941



Internal ID11709933
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1040276
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4051941
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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