A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1740431



Internal ID12903549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202769038..202769362hg38UCSC Ensembl
chr1:202738166..202738490hg19UCSC Ensembl
chr1:201004789..201005113hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4309008
SamplesHuRef
Known GenesKDM5B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1740431
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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