A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1546529



Internal ID12362964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51804578..51804578hg38UCSC Ensembl
chr1:52270250..52270250hg19UCSC Ensembl
chr1:52042838..52042838hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3733512
SamplesHuRef
Known GenesNRD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1546529
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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