A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv2653e59
Internal ID
22763873
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr3:8559424..8560136
hg38
UCSC
Ensembl
chr3:8601110..8601822
hg19
UCSC
Ensembl
chr3:8576110..8576822
hg18
UCSC
Ensembl
Cytoband
3p26.1
Allele length
Assembly
Allele length
hg38
713
hg19
713
hg18
713
Variant Type
CNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv3302941
,
esv3302694
Samples
NA18502, NA10851, NA19190, NA18526, NA12750, NA12155, NA18489, NA18916, NA19138, NA19137, NA19238, NA19210, NA12003, NA19114, NA18499, NA18856, NA18912, NA19099, NA19225, NA18858, NA19240, NA12749, NA19093, NA18505, NA18965, NA18577
Known Genes
LMCD1
Method
Sequencing
Analysis
Platform
Illumina
Comments
Reference
1000_Genomes_Consortium_Pilot_Project
Pubmed ID
20981092
Accession Number(s)
dgv2653e59
Frequency
Sample Size
185
Observed Gain
26
Observed Loss
0
Observed Complex
0
Frequency
n/a
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