A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3990095



Internal ID11425092
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1676191
Supporting Variants
SamplesHuRef
Known GenesSERINC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3990095
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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