Variant Details

Variant: esv2734267

Internal ID

9968594

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr7:37437651..37438025	hg38	UCSC Ensembl
Outer	chr7:37477254..37477628	hg19	UCSC Ensembl

Cytoband

7p14.1

Allele length

Assembly	Allele length
hg38	375
hg19	375

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6856887, essv6890395, essv6731112, essv6884408, essv6782459, essv6767731, essv6794905, essv6827721, essv6957431, essv6748922, essv6694447, essv6790757, essv6952157, essv6676804, essv6811489, essv6887188, essv6705247, essv6723480, essv6814546, essv6841471, essv6964125, essv6818503, essv6774801, essv6822655, essv6830390, essv6826642, essv6899878, essv6927030, essv6893735, essv6712071, essv6805633, essv6939276, essv6837668, essv6698072, essv6849491, essv6778441, essv6923297, essv6865860, essv6799111, essv6834002, essv6687444, essv6969637, essv6715767, essv6701346, essv6684207, essv6903940, essv6975221, essv6907807, essv6881594, essv6808605, essv6719655, essv6930701, essv6797621, essv6786657, essv6708637

Samples

SSM010, SSM022, SSM027, SSM013, SSM082, SSM086, SSM084, SSM042, SSM040, SSM078, SSM043, SSM089, SSM064, SSM035, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM045, SSM067, SSM094, SSM083, SSM097, SSM041, SSM077, SSM100, SSM056, SSM009, SSM011, SSM066, SSM028, SSM029, SSM095, SSM047, SSM069, SSM037, SSM034, SSM038, SSM019, SSM096, SSM079, SSM068, SSM044, SSM074, SSM075, SSM026, SSM014, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080

Known Genes

ELMO1

Method

Sequencing

Analysis

Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads

Platform

Illumina HiSeq 2000

Comments

Reference

Wong_et_al_2012b

Pubmed ID

23290073

Accession Number(s)

esv2734267

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	55
Observed Complex	0
Frequency	n/a