A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv765e214



Internal ID20122188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232381419..232416439hg38UCSC Ensembl
chr2:233246129..233281149hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3835021
hg1935021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3594648, esv3594647
SamplesHG03705, HG03646, NA20752, HG03973, NA20362, HG03746, NA20894, NA20845, NA20755, HG03687, HG04038, NA20849, HG03871, HG03079, HG03600, HG03673, HG02307, NA21095, NA21101, HG04022, HG03771, NA19752, NA19439
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv765e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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