A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3850999



Internal ID11564186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180323869..180324193hg38UCSC Ensembl
chr1:180293004..180293328hg19UCSC Ensembl
chr1:178559627..178559951hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1123070
Supporting Variants
SamplesHuRef
Known GenesACBD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3850999
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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