A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3732089



Internal ID12029781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:211929..212196hg38UCSC Ensembl
chr5:212044..212311hg19UCSC Ensembl
chr5:265044..265311hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1572597
Supporting Variants
SamplesHuRef
Known GenesCCDC127
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3732089
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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