A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4133130



Internal ID11068983
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1336934
Supporting Variants
SamplesHuRef
Known GenesGNG12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4133130
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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