A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615439



Internal ID7002328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149873664..150035324hg38UCSC Ensembl
chr7:149570753..149732413hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38161661
hg19161661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13004026, essv13004033, essv13004021, essv13004036, essv13004035, essv13004023, essv13004024, essv13004022, essv13004020, essv13004032, essv13004030, essv13004027, essv13004019, essv13004031, essv13004029, essv13004025, essv13004028, essv13004034
SamplesHG00592, HG00671, HG00524, NA18528, NA19089, HG02185, NA18942, HG00277, NA19056, NA18991, HG00500, NA18976, HG00479, NA19090, NA18636, NA18983, NA18623, HG01805
Known GenesATP6V0E2, ATP6V0E2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615439
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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