A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4172806



Internal ID11108658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7994082..7995181hg38UCSC Ensembl
chr4:7995809..7996908hg19UCSC Ensembl
chr4:8046709..8047808hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381100
hg191100
hg181100
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1632857
Supporting Variants
SamplesHuRef
Known GenesABLIM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4172806
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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