A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3704804



Internal ID12057066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133833419..133833547hg38UCSC Ensembl
chr6:134154557..134154685hg19UCSC Ensembl
chr6:134196250..134196378hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38129
hg19129
hg18129
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1653143
Supporting Variants
SamplesHuRef
Known GenesMGC34034
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3704804
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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