A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4115580



Internal ID11398119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31657166..31657166hg38UCSC Ensembl
chr7:31696780..31696780hg19UCSC Ensembl
chr7:31663305..31663305hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38576
hg19576
hg18576
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1756820
Supporting Variants
SamplesHuRef
Known GenesCCDC129
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4115580
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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