A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3956213



Internal ID11458973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52188210..52188278hg38UCSC Ensembl
chr10:53947970..53948038hg19UCSC Ensembl
chr10:53617976..53618044hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1485951
Supporting Variants
SamplesHuRef
Known GenesPRKG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3956213
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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