A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv574e214



Internal ID22756468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41081318..41109049hg38UCSC Ensembl
chr17:39237570..39265301hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3827732
hg1927732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3640575, esv3640572
SamplesNA19782, HG02882, HG03136, NA19740, HG00409
Known GenesKRTAP4-7, KRTAP4-8, KRTAP4-9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv574e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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