A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv704e214



Internal ID22756598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62689329..62695016hg38UCSC Ensembl
chr2:62916464..62922151hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385688
hg195688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3591046, esv3591045
SamplesNA20281, NA12890
Known GenesEHBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv704e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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