A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1410990



Internal ID12227426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87378880..87378940hg38UCSC Ensembl
chr4:88300032..88300092hg19UCSC Ensembl
chr4:88519056..88519116hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4254019
SamplesHuRef
Known GenesHSD17B11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1410990
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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