A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1336934



Internal ID12153370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67709926..67710002hg38UCSC Ensembl
chr1:68175609..68175685hg19UCSC Ensembl
chr1:67948197..67948273hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3877
hg1977
hg1877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4133130
SamplesHuRef
Known GenesGNG12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1336934
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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