A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4108038



Internal ID11653837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115254281..115254565hg38UCSC Ensembl
chr1:115796902..115797186hg19UCSC Ensembl
chr1:115598425..115598709hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1361446
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4108038
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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