A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4082007



Internal ID11333182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:501628..501628hg38UCSC Ensembl
chr6:501628..501628hg19UCSC Ensembl
chr6:446628..446628hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1708635
Supporting Variants
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4082007
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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