A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3858552



Internal ID11903319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128798349..128798349hg38UCSC Ensembl
chr7:128438403..128438403hg19UCSC Ensembl
chr7:128225639..128225639hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38764
hg19764
hg18764
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1249692
Supporting Variants
SamplesHuRef
Known GenesCCDC136
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3858552
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer