A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3686631



Internal ID12075238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244582925..244582977hg38UCSC Ensembl
chr1:244746227..244746279hg19UCSC Ensembl
chr1:242812850..242812902hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1291880
Supporting Variants
SamplesHuRef
Known GenesC1orf101
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3686631
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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