A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4257015



Internal ID11192867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63400269..63400325hg38UCSC Ensembl
chr1:63865940..63865996hg19UCSC Ensembl
chr1:63638528..63638584hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1543308
Supporting Variants
SamplesHuRef
Known GenesALG6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4257015
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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