A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4227485



Internal ID11163337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:519327..520280hg38UCSC Ensembl
chr6:519327..520280hg19UCSC Ensembl
chr6:464327..465280hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38954
hg19954
hg18954
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1288084
Supporting Variants
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4227485
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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