A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1103396



Internal ID12266520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75885878..75886566hg38UCSC Ensembl
chr1:76351563..76352251hg19UCSC Ensembl
chr1:76124151..76124839hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38689
hg19689
hg18689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3618724
SamplesHuRef
Known GenesMSH4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1103396
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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