A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3990300



Internal ID11424887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83243439..83243507hg38UCSC Ensembl
chr6:83953158..83953226hg19UCSC Ensembl
chr6:84009877..84009945hg18UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1303011
Supporting Variants
SamplesHuRef
Known GenesME1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3990300
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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