A curated catalogue of human genomic structural variation
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Variant Details
Variant: esv3890648
Internal ID
18838046
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr5:71037342..71073570
hg38
UCSC
Ensembl
Outer
chr5:71037342..71083639
hg38
UCSC
Ensembl
Inner
chr5:70333169..70369397
hg19
UCSC
Ensembl
Outer
chr5:70333169..70379466
hg19
UCSC
Ensembl
Inner
chr5:70368925..70405153
hg18
UCSC
Ensembl
Outer
chr5:70368925..70415222
hg18
UCSC
Ensembl
Cytoband
5q13.2
Allele length
Assembly
Allele length
hg38
46298
hg19
46298
hg18
46298
Variant Type
CNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
essv25784281
,
essv25784943
,
essv25778895
,
essv25780042
,
essv25779761
,
essv25785013
Samples
Known Genes
GTF2H2
,
GTF2H2B
,
GTF2H2C
,
GTF2H2D
,
LOC647859
Method
SNP array
Analysis
Platform
Illumina HumanHap 610
Comments
Reference
Suktitipat_et_al_2014
Pubmed ID
25118596
Accession Number(s)
esv3890648
Frequency
Sample Size
3017
Observed Gain
0
Observed Loss
6
Observed Complex
0
Frequency
n/a
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