A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4258434



Internal ID11194286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236755853..236755902hg38UCSC Ensembl
chr1:236919153..236919202hg19UCSC Ensembl
chr1:234985776..234985825hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1082367
Supporting Variants
SamplesHuRef
Known GenesACTN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4258434
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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