A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588404



Internal ID6975820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:194790245..194791422hg38UCSC Ensembl
Innerchr1:194790251..194791416hg38UCSC Ensembl
Outerchr1:194790239..194791428hg38UCSC Ensembl
chr1:194759375..194760552hg19UCSC Ensembl
Innerchr1:194759381..194760546hg19UCSC Ensembl
Outerchr1:194759369..194760558hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381178
hg191178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10245708, essv10245710, essv10245696, essv10245704, essv10245699, essv10245694, essv10245705, essv10245707, essv10245698, essv10245700, essv10245709, essv10245701, essv10245703, essv10245695, essv10245697, essv10245702, essv10245706, essv10245711, essv10245693
SamplesHG03514, HG03121, NA18924, HG02870, NA18519, HG03385, NA20798, HG02981, HG02461, NA19172, HG03352, HG02953, HG03123, HG03563, NA19095, NA19439, HG03049, HG01055, NA19185
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588404
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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