A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3711948



Internal ID11703236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:601846..602446hg38UCSC Ensembl
chr6:601846..602446hg19UCSC Ensembl
chr6:546846..547446hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38601
hg19601
hg18601
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1333120
Supporting Variants
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3711948
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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