A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3610332



Internal ID12151536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74289486..74289607hg38UCSC Ensembl
chr1:74755170..74755291hg19UCSC Ensembl
chr1:74527758..74527879hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38122
hg19122
hg18122
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1327381
Supporting Variants
SamplesHuRef
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3610332
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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