A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644663



Internal ID7031417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51005478..51007809hg38UCSC Ensembl
Innerchr19:51005478..51007809hg38UCSC Ensembl
Outerchr19:51005343..51007995hg38UCSC Ensembl
chr19:51508734..51511065hg19UCSC Ensembl
Innerchr19:51508734..51511065hg19UCSC Ensembl
Outerchr19:51508599..51511251hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382332
hg192332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16079918, essv16079921, essv16079910, essv16079931, essv16079926, essv16079899, essv16079917, essv16079914, essv16079906, essv16079903, essv16079907, essv16079902, essv16079920, essv16079929, essv16079927, essv16079911, essv16079928, essv16079908, essv16079915, essv16079922, essv16079932, essv16079930, essv16079919, essv16079924, essv16079912, essv16079905, essv16079898, essv16079901, essv16079923, essv16079909, essv16079916, essv16079925, essv16079900, essv16079913, essv16079904
SamplesHG00235, NA21110, HG01521, HG00351, HG02433, HG03668, NA12399, HG01694, HG00337, HG00271, HG03770, NA20756, HG03868, NA12005, HG01176, NA20811, HG01771, HG00731, NA20505, HG02697, HG00273, HG00157, HG03006, NA20765, HG01148, HG02010, NA19747, HG00366, HG03949, NA20530, NA06994, NA20582, HG01783, HG01431, NA12006
Known GenesKLK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644663
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer