A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3733512



Internal ID11681671
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1546529
Supporting Variants
SamplesHuRef
Known GenesNRD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3733512
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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