A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4314580



Internal ID11597118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7196842..7196899hg38UCSC Ensembl
chr12:7349438..7349495hg19UCSC Ensembl
chr12:7240705..7240762hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1740647
Supporting Variants
SamplesHuRef
Known GenesPEX5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4314580
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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