A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7e224



Internal ID20159353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70862010..71083639hg38UCSC Ensembl
chr5:70157837..70379466hg19UCSC Ensembl
chr5:70193593..70415222hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38221630
hg19221630
hg18221630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3890651, esv3890646
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP, SERF1A, SERF1B, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)dgv7e224
Frequency
Sample Size3017
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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