A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1676191



Internal ID12492625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31432137..31432137hg38UCSC Ensembl
chr1:31904984..31904984hg19UCSC Ensembl
chr1:31677571..31677571hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38198
hg19198
hg18198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3990095
SamplesHuRef
Known GenesSERINC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1676191
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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