A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604847



Internal ID6991875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41564052..41600219hg38UCSC Ensembl
chr5:41564154..41600321hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3836168
hg1936168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882025, essv11882031, essv11882026, essv11882028, essv11882018, essv11882032, essv11882030, essv11882033, essv11882021, essv11882037, essv11882034, essv11882036, essv11882029, essv11882019, essv11882027, essv11882020, essv11882038, essv11882035, essv11882024, essv11882022, essv11882023
SamplesNA19055, NA18947, NA20332, NA18959, NA19067, NA19005, NA18942, NA19062, NA18975, HG00675, NA19007, NA18951, HG01871, HG01808, NA19000, NA19009, HG01858, NA18971, NA18972, NA19063, NA19074
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604847
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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