A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3971964



Internal ID11443222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3167970..3168206hg38UCSC Ensembl
chr1:3084534..3084770hg19UCSC Ensembl
chr1:3074394..3074630hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1279453
Supporting Variants
SamplesHuRef
Known GenesPRDM16
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3971964
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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