A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4094468



Internal ID11320721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56776952..56777291hg38UCSC Ensembl
chr1:57242625..57242964hg19UCSC Ensembl
chr1:57015213..57015552hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38340
hg19340
hg18340
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1167886
Supporting Variants
SamplesHuRef
Known GenesC1orf168
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4094468
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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